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Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.
Mohammad, Saeed; Wolfe, Lynne A; Stöbe, Petra; Biskup, Saskia; Wainwright, Mark S; Melin-Aldana, Hector; Malladi, Padmini; Muenke, Maximilian; Gahl, William A; Whitington, Peter F.
Afiliação
  • Mohammad S; Division of Gastroenterology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
  • Wolfe LA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD.
  • Stöbe P; Center for Genomics and Transcriptomics, Tuebingen, Germany.
  • Biskup S; Center for Genomics and Transcriptomics, Tuebingen, Germany.
  • Wainwright MS; Division of Neurology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Melin-Aldana H; Department of Pathology, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
  • Malladi P; Division of Gastroenterology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
  • Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD.
  • Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Whitington PF; Division of Gastroenterology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
J Pediatr ; 179: 144-149.e2, 2016 12.
Article em En | MEDLINE | ID: mdl-27640355

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Fosfatase 1 / Transtornos do Neurodesenvolvimento / Transtornos do Crescimento / Cirrose Hepática / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: J Pediatr Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Fosfatase 1 / Transtornos do Neurodesenvolvimento / Transtornos do Crescimento / Cirrose Hepática / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: J Pediatr Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos